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Documentary special - prenatal screening

ELIZABETH JACKSON: Hello, I'm Elizabeth Jackson and you're listening to a Radio Current Affairs documentary.

Pregnancy is a journey of hope but it's also one of uncertainty.

For more than a decade the standard prenatal screening and testing in Australia has remained largely unchanged.

But 2013 heralded a scientific revolution in this area.

A simple blood test now has the potential to give women much more information than ever before about their unborn baby.

Rachel Carbonell has this report.

RACHEL CARBONELL: Jessica Lilley is 40-years-old and halfway through her pregnancy. She's waiting for a routine check-up with an obstetrician at the Royal Women's Hospital in Melbourne.

(Sounds from within the waiting room)

It's been a long day of appointments.

(Sounds from within the waiting room)

So far, everything seems fine with Jessica's pregnancy.

DOCTOR: So now Jessica, this is to complete your first book-in visit today.

JESSICA LILLEY: Yes.

DOCTOR: Yeah, okay so you're now just under 24 weeks?

JESSICA LILLEY: Yes, that's right.

DOCTOR: And how are you?

JESSICA LILLEY: Very well actually with the exception of my back.

DOCTOR: Right.

JESSICA LILLEY: A very well timed physio appointment. No, I've actually been fine.

RACHEL CARBONELL: But it hasn't all been straightforward.

Like most pregnant women in Australia, Jessica did the combined first trimester screening test which consists of a blood test at about 11 weeks and an ultrasound at around 12 weeks.

The results are combined to give a statistical probability of having a child with a chromosomal abnormality like Down syndrome.

JESSICA LILLEY: Obviously I went for my 12 week scan and my GP recommended that I do the combined test so I did that. The scan was extremely positive, to the extent that the doctor who gave us the scan didn't even mention the need really to check the bloods. She just said "That's great, you're all in the clear".

So we made the mistake of telling the family and then the blood results came back and pushed my result for the combined test into high risk for Down syndrome.

RACHEL CARBONELL: Jessica was given a one in 221 chance of having a child with Down syndrome.

High risk is generally defined in Australia as any score greater than one in 300.

Until recently the options for women in Jessica's situation have been to either accept that risk, or to have one of two invasive tests - an amniocentesis or Chorionic Villus sampling, also known as a CVS.

Both procedures involve taking a sample of foetal genetic material with a long needle, and carry a 0.5 per cent to 1 per cent risk of miscarriage.

But they can definitively diagnose a number of conditions, including chromosomal abnormalities and some genetic abnormalities like cystic fibrosis.

Being older and having suffered a miscarriage before, Jessica struggled with the idea of a test that might jeopardise her pregnancy.

JESSICA LILLEY: I know that it is purely anecdotal but I had heard through friends of women who had gone through with either one of those and had, as a result, had a miscarriage. You know I think if my risk level had been different, if it'd come back one in 10 then of course I would have looked at those tests a little bit more seriously but given where I sat I just didn't, it just felt drastic. It felt to me like a drastic measure to have an invasive procedure when really the risk was minimal in my mind although I'd been put in this high risk category.

RACHEL CARBONELL: It was then that Jessica learned of a new blood test, available only through the United States, which could give her the answers she was looking for without threatening her pregnancy.

Cell Free DNA testing, more commonly known as Non-Invasive Prenatal Screening, or NIPS, isn't technically diagnostic, but it has a 99 per cent detection rate for Down syndrome and can also pick up other chromosomal abnormalities.

It's not yet subsidised in Australia, and costs between $500 and $1,200.

JESSICA LILLEY: Look, I was really grateful that the test is available. Yeah I definitely felt afterwards that I'm very lucky that I could afford it and that I didn't have to worry about it or think about it.

I really feel for any other women who are in the same position as me who just really just for pure financial reasons had to make another choice or didn't have that opportunity.

RACHEL CARBONELL: If you had your time again or if you were pregnant again, what do you think you'd do? How would you navigate your way through the process now that you know it quite well?

JESSICA LILLEY: I would have the 12 week scan. I wouldn't bother with the blood tests. I would go straight for this blood test. I'd just pay for it upfront.

I just don't want to go through that again, that sort of emotional roller coaster again. I'd rather just know. That might be irresponsible but yeah, that's what I'd do.

RACHEL CARBONELL: Like all technological advances the new non-invasive test may raise as many questions as it answers, from the vexed issue of genetic ethics to concerns about affordability.

Susan Fawcett is the head of the Melbourne Royal Women's Hospital genetic counselling service in Melbourne.

SUSAN FAWCETT: We've recently been able to start counselling and ordering the testing for our own clients. So we are now able to do that through the genetic counselling service. So one of the providers is happy for us to do that knowing that the patients have had genetic counselling.

RACHEL CARBONELL: Do you see any issues arising yet with any distress over one's ability to pay for it?

SUSAN FAWCETT: To be honest with you, we have. We've raised it as an option with couples who when we were first explaining the test to them it seemed like a really great option for them. They were able to potentially avoid having an amniocentesis with the risk of miscarriage and then when we get to the price, they've simply not been able to go down that road. So yeah, we have seen it.

RACHEL CARBONELL: And that must be a distressing situation for couples in that position?

SUSAN FAWCETT: Yeah, it is and it's incredibly disappointing to them to know that the test is there but not be able to have the means to access it.

RACHEL CARBONELL: Many experts in this area believe this is a temporary disadvantage. It's just a matter of time until the new test is subsidised.

David Amor is the director of Victorian Clinical Genetic Services.

DAVID AMOR: It's a certainty that eventually there will be government funding for this type of testing. It's definitely the way of the future so it's just a matter of time and I think part of that will be waiting until the cost of the test reduces to a sufficiently low level where it's comparable or in fact more cost effective than existing testing.

RACHEL CARBONELL: You say it's an inevitability but the reality is that the wheels on these kinds of health economic decisions tend or have tended in the past to turn fairly slowly. How far away do you think it is?

DAVID AMOR: I agree that these things can take a lot of time, and so it may be several years before we have government support for this testing.

RACHEL CARBONELL: Associate Professor Amor is also among those pushing for the development of a domestic version of the test.

DAVID AMOR: Like other organisations in Australia, we are sending samples to America. So we are gaining some experience in the test from that perspective. Our intention ultimately is to run the tests in house. It's inevitable that this test will need to be done in Australia. We can't go on forever shipping samples around the world.

RACHEL CARBONELL: In its current form, the strength of the test is detecting Down syndrome.

It has a false positive rate of less than 1 per cent, but it's recommended that any positives be confirmed by an invasive diagnostic test to make sure that they're not false positives.

The test has a lower detection rate for other chromosomal abnormalities, such as trisomy 18 and trisomy 13. And it doesn't test at all for most rare chromosomal abnormalities which might be individually unusual but as a group make up a significant number.

As the test is further developed and refined, the biggest issues with it will be what it can test for, not what it can't test for.

Victorian Clinical Genetic Services uses the Panorama prenatal test, offered by the US biotech company Natera.

EXTRACT FROM NATERA ADVERTISEMENT: Safe and accurate prenatal testing is here. As early as nine weeks into your pregnancy you can test for Down syndrome and other conditions that might be affecting your foetus by providing a simple blood draw...

RACHEL CARBONELL: David Amor says these tests are at the very beginning of their evolution. Soon they'll be able to test for more ambiguous genetic issues, many of which we know little about.

In turn, prospective parents will face more complicated dilemmas than those posed by the old testing processes.

DAVID AMOR: We are now starting to be able to detect abnormalities that are perhaps less serious or less certain about the outcome or what they mean for the developing child and that's the other element of the new technology that is particularly challenging. The more you're able to detect it's a good thing in terms of being able to detect severe or serious abnormalities but you also see more genetic changes that may perhaps be just part of normal variation between different people or maybe contributors to what we wouldn't necessarily see as serious disorders.

RACHEL CARBONELL: What sorts of things are you talking about and why do they present more of a conundrum?

DAVID AMOR: So when we look at the results of prenatal testing, I guess ideally the results will fit into one of two categories. That is, it will be a completely normal result and that's obviously the desirable result or it will be a clearly abnormal result where we know a lot about the condition that has been detected and about the consequences of that for a child.

But there is a group of abnormalities that sit in between the two and so, for example, we may detect a change that we have never seen before in any other person or child. It may look, if we look at the genetic content of that change, it might make us suspicious that it would cause a disability in a child but we don't know for sure. And that's very difficult information to convey to prospective parents that, you know, we've found something that we're worried about but in fact your child may be completely healthy.

Another category is that increasingly we are recognising some genetic changes that are risk factors for disability - for learning disability, for psychiatric disorders but they are not the sole cause of those disorders. So those sort of findings can be very challenging.

So we can say for example we can detect that in a developing baby, in a prenatal sample, we may be able to say that well, there's a 50 per cent chance that this child will have learning difficulties but equally there's a 50 per cent chance that they will be completely fine.

And once again that's very difficult information for couples to comprehend, to get their head around and then make decisions based on that information.

RACHEL CARBONELL: We can already find many of these things out through microarray testing of genetic material collected through invasive procedures. But because these tests can be traumatic and may risk a pregnancy, women tend not to take them without a good reason.

Soon the non-invasive blood test will be able to detect the same things, creating the temptation to test for things because we can.

RACHEL CARBONELL: Lisa Hui is an obstetrician and specialist in maternal foetal medicine at the Mercy Hospital in Melbourne.

LISA HUI: We really have to consider the ethical implications of making diagnosis of conditions that really only have perhaps a mild effect on quality of life.

RACHEL CARBONELL: Dr Hui says it's time we started thinking about where this testing is headed, and whether as a society we're prepared for the questions it will ask of us.

LISA HUI: One of the new things that has been raised by the cell free DNA test is the fact we can also test for foetal abnormalities in the sex chromosome. So it can pick up things like Turner syndrome and Klinefelter syndrome and other abnormalities which are not currently being tested for with other forms of screening.

So that opens up a whole new area to talk to people about. Because the clinical picture you get from some of these sex chromosome abnormalities are very mild and a lot of people have them without knowing, it's information that women may find very difficult to deal with because they're being told their foetus has something which may lead to a completely healthy child with a good life expectancy and quality of life, or it may result in a child who has significant health problems and the range is so big it makes the decision making a lot harder than some of the other things that we test for.

RACHEL CARBONELL: Another issue with the non-invasive test is that it can tell the sex of a foetus earlier than any other test has been able to, well before 12 weeks.

LISA HUI: Yes, I think that is one of the big things that has been raised by this test as well. It's a big ethical issue, particularly in Asia, and in China they have laws that actually restrict the revealing of foetal sex for that reason.

In Australia we haven't talked about it at all and the reason why this is different to determining foetal sex by other methods is that it's much earlier in pregnancy. So it can be detected before 12 weeks compared to say ultrasound at 18 to 20 weeks which is how most people find out. You know most people who have carried a pregnancy to that stage are not going to terminate then on the basis of foetal sex so yeah, it does raise an ethical issue that our community hasn't started talking about.

RACHEL CARBONELL: Dr Hui says we've reached a critical juncture of technology, understanding and choice when it comes to the sorts of things we are going to be able to test for.

LISA HUI: So already one company has launched a non-invasive screening test that will cover a range of other rare syndromes including micro deletions and micro duplications. So these are you know tests that normally would require an invasive test. They're not things we screen for currently.

So it's already being applied as a screening test to normal healthy women who would have never have heard of the majority of the conditions that are now available.

RACHEL CARBONELL: Many women don't understand the pre-natal screening as it stands, so comprehending this new, rapidly developing test is likely to be even more problematic. Women may end up with answers to questions they didn't realise they were asking.

Genetic counsellor, Susan Fawcett.

SUSAN FAWCETT: Look I think it's incredibly distressing and shocking for them to find themselves in that position. I think sometimes the way the information is communicated to them initially can be less than optimal and often contributes to that anxiety to some extent.

I have had some master students do some research with me over the last couple of years looking at these cohorts of women, so women who get an increased risk on different screening modalities, and pretty consistently across the board they describe it as being shock and panic and anxiety at the time of receiving the result.

RACHEL CARBONELL: The availability of the new test in Australia has so far been driven largely by the overseas companies that offer the tests rather than by Australian health policy.

Like Natera, Ariosa is one of five or six companies offering the non-invasive test. It has emotive website testimonials from pregnant women and specialist doctors.

(Extract from advertisement)

WOMAN'S TESTIMONIAL: This is my first pregnancy so I really didn't know what to expect so when the doctors came to me and asked if I'd like to do a Harmony test versus the amniocentesis, you know, of course my husband and I didn't blink an eye.

I would recommend the test to other women because the Harmony test with it being a simple blood test it has minimal risk as opposed to amniocentesis.

MAN'S TESTIMONIAL: The Harmony prenatal test is a game changer in my practice because it allows me to offer my patients earlier and more accurate detection of trisomies such as Down syndrome.

LISA HUI: It is largely being driven or developed by private industry. So the way it's implemented has been very different. It's been marketed to the public and to the providers of the test.

RACHEL CARBONELL: Do you have concerns about the amount of pre-test counselling that's available and whether or not women are likely to sort of slip through that net?

LISA HUI: I think it's actually very hard to get a feeling for what's actually happening in the consultation room in Australia. There is no actual monitoring system in place to count the numbers of tests that are being done, who they are being done on, who is providing the pre-test and post-test counselling, who is actually ordering the test and because they're all being processed in overseas laboratories, we don't have any jurisdiction over those labs to get them to report their results to us.

There really needs to be some leadership from a policy perspective on setting up some infrastructure for monitoring what is happening.

RACHEL CARBONELL: Alice is a 40-year-old mother of two, expecting her third child. She and her husband were delighted to discover the test, because being an older mother, she had braced herself for an invasive test to find out if her foetus was affected by a chromosomal abnormality.

She was one of the first Australian women to use the new non-invasive test.

ALICE: I think my husband had actually read something in the newspaper or something like that about there was this new blood test which you didn't have to have that invasive process and that had no risk of miscarriage and so he sort of mentioned it and found an article about it and then I took it to my doctor and my doctor said "Oh I haven't heard about that." This is - and she had a bit of a look on the internet but didn't know anything specific about where you could do it or she said it's sort of coming online but it's not here yet.

And I went back to my husband and told him the doctor said it's not really available and he said "Right, no it's definitely available" and went back and did more research and found out there were a few places in Melbourne that could do the test and so I felt like that would be a good thing to do and we were fortunately in a position to have the money to be able to pay for the test.

RACHEL CARBONELL: When Alice arrived for her routine 12- week ultrasound, she already knew much more than most women at that stage of pregnancy.

SHAWN CHOONG: Today we'll look at the baby and, you know, at this early stage we're looking for two arms, two legs, we're looking at the brain and the basic sort of spine structure - all that sort of thing.

RACHEL CARBONELL: The non-invasive test had given her a one in 10,000 chance of having a Down syndrome baby.

As obstetrician sonographer, Shawn Choong, explained she already had better information on the chances of her unborn child having Down syndrome than anything her ultrasound was about to tell her.

SHAWN CHOONG: What you've had there, that's the full house, you can't beat that.

ALICE: Yeah, yeah.

SHAWN CHOONG: You know, whatever we look at today, that's better.

ALICE: Okay.

SHAWN CHOONG: It's not a 100 per cent.

ALICE: Yeah.

SHAWN CHOONG: But that's better. It's got 99.9 per cent sensitivity etc etc. It's much better whereas this test at best about 90 per cent.

ALICE: Yes.

SHAWN CHOONG: So you've already trumped it by having that. So in terms of the Down syndrome department, you guys are walking in here have had news that we don't expect to upset basically.

ALICE: Yes. Yes.

SHAWN CHOONG: Yeah, that's all. That's fine.

RACHEL CARBONELL: The new procedure not only poses a whole new set of issues for prospective parents but also for a health industry built around the existing system of prenatal screening.

It seems unlikely though that ultrasounds are going to be superseded anytime soon.

SHAWN CHOONG: Alright, so there's the, look at that, eh. A picture paints a thousand words, look at that nose. Little chin, forehead. In the chest, look at that, a little heart.

ALICE: For me for this pregnancy I had so much going on, like with working and having two other children and doing the millions of other things you're doing, the time we actually, a couple of times we went in to get the ultrasound were these beautiful moments where I could actually connect with my husband and the baby and feel like for that time that I sort of could enjoy it for a moment. Yeah, I don't know if you can put a price on that for our emotional health but for me that was a really special, both ultrasounds were really special.

Just a quiet time, it is lovely and quite in those places where you still and you stop and you connect with what is happening in your body.

RACHEL CARBONELL: Whatever screening pregnant women opt to take the issue of testing will always be a vexed one for families of people who have chromosomal abnormalities.

(Child laughing)

RACHEL CARBONELL: Hilary Harper has a toddler, Daniel, who has Down syndrome. She was given a one in 10 chance of him having the condition and she and her husband took their chances.

HILARY HARPER: I felt there was no choice offered in the sense that it was assumed that you would have the screening tests and then if the screening tests came back with a high risk for Down syndrome then they encourage you to have the diagnostic tests and with my son the screening tests came back with a chance of one in 10 which philosophically we said to each other, oh well, that's a nine in 10 chance that he doesn't have Down syndrome but the doctors, they actually take you into a little dark room and they look very grave and they hand you a box of tissues and they say you've got a one in 10 risk and we went hmmm okay.

I mean our history meant that we weren't contemplating terminating that pregnancy under any circumstances and I totally support the right of other people to be able to terminate pregnancies like that under those circumstances but what worries me is that when you do have a (Daniel cries) screening test, there's no information given to you about what it would be like to live with a child with Down syndrome and it's a joy and there's no sense that it would be a valid choice and a reasonable choice to make.

(speaking to Daniel) Hello you.

Yeah, I feel like that there's just not the balance given in terms of the information that could be supplied to you about support networks that are available and maybe the chance to chat to a family that has a member with Down syndrome because it's just not made apparent to you and a lot of people don't have the opportunity to find out that raising a child with Down syndrome is, in most respects, like raising any other child certainly when they're a baby. It's just, you know, they're just cute like babies and they are joyful like babies are generally and they have all the challenges of raising a baby and a few extras.

RACHEL CARBONELL: Screening has dramatically reduced the number of babies being born with Down syndrome over the last decade or so, and Hilary Harper says the medical profession still has a way to go when it comes to sensitively explaining test results.

HILARY HARPER: It's always presented in terms of risk. You have an xyz risk of having a child with Down syndrome and that contributes in my view to the sense that this is a tragedy that happens to you.

I think it's a tragedy if you lose a child and that is a small but present risk of having the diagnostic test and that's another reason we chose not to have them and I think that tests like, the fact that you are strongly encouraged and it's assumed you are going to have the diagnostic test helps normalise the idea that it's reasonable and straight forward a decision to terminate a child with Down syndrome, a pregnancy with a foetus with Down syndrome and the new non-invasive tests, I think, will only strengthen that because I don't see them saying, I don't see the medical profession saying we will also give information about what it might be like to live with a child with Down syndrome and you know occasionally he gets cranky.

(Daniel blows raspberries)

RACHEL CARBONELL: One thing is certain - there's an urgent need for more community education about prenatal testing and what issues it may raise, not just for prospective parents, but for society as a whole.

GPs, midwives and obstetricians simply won't have the time to explain the increasingly complex results that the tests can deliver or the new quandaries it may present.

In our quest for peace of mind during pregnancy, it's possible that technology is outpacing us, and that in some cases we are potentially creating new anxieties and uncertainties for ourselves rather than easing them.

ELIZABETH JACKSON: That report from Rachel Carbonell and you've been listening to a Radio Current Affairs documentary.